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  Domain Name: Ig3_Robo
Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors. Ig3_Robo: domain similar to the third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors. Robo receptors play a role in the development of the central nervous system (CNS), and are receptors of Slit protein. Slit is a repellant secreted by the neural cells in the midline. Slit acts through Robo to prevent most neurons from crossing the midline from either side. Three mammalian Robo homologs (robo1, -2, and -3), and three mammalian Slit homologs (Slit-1,-2, -3), have been identified. Commissural axons, which cross the midline, express low levels of Robo; longitudinal axons, which avoid the midline, express high levels of Robo. robo1, -2, and -3 are expressed by commissural neurons in the vertebrate spinal cord and Slits 1, -2, -3 are expressed at the ventral midline. Robo-3 is a divergent member of the Robo family which instead of being a positive regulator of slit responsiveness, antagonizes slit responsiveness in precrossing axons. The Slit-Robo interaction is mediated by the second leucine-rich repeat (LRR) domain of Slit and the two N-terminal Ig domains of Robo, Ig1 and Ig2. The primary Robo binding site for Slit2 has been shown by surface plasmon resonance experiments and mutational analysis to be is the Ig1 domain, while the Ig2 domain has been proposed to harbor a weak secondary binding site.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 289
Total Disease Mutations Found: 116
This domain occurred 114 times on human genes (242 proteins).



  ANTLEY-BIXLER SYNDROME WITHOUT GENI
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STE
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS,
  AORTIC ANEURYSM, FAMILIAL THORACIC 7 (AAT7)
  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, DILATED, 1MM
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
  CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4
  CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED;;
  CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
  CROUZON SYNDROME
  CROUZON SYNDROME, INCLUDED
  ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
  ESOPHAGEAL CARCINOMA, SOMATIC
  GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
  HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
  INCLUDED
  JACKSON-WEISS SYNDROME
  JACKSON-WEISS SYNDROME, INCLUDED
  JACKSON-WEISS SYNDROME, INCLUDED;;
  OSTEOGLOPHONIC DYSPLASIA
  PFEIFFER SYNDROME
  PFEIFFER SYNDROME, INCLUDED
  PFEIFFER SYNDROME, INCLUDED;;
  PFEIFFER SYNDROME, TYPE III
  SCAPHOCEPHALY AND AXENFELD-RIEGER AN
  TO
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Ig3_Robo






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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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